Détail du antigène C4ORF17

Détail du antigène C4ORF17

AfficherCacher

Autre désignation

C4orf17

Sujet

C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6 % of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded by a gene that is located on chromosome 4, and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.